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Klippel-Feil Syndrome via the MEOX1 Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
8759 MEOX1 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8759MEOX181479 81479(x2) $890 Order Options and Pricing

Pricing Comments

Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing backbone).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing backbone).

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

Turnaround Time

18 days on average for standard orders or 13 days on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Juan Dong, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Patients with Klippel-Feil Syndrome share the defining characteristic of fused cervical vertebrae. Klippel-Feil is a heterogeneous collection of disorders rather than a single disease entity (Tracy et al. Clin Orthopedics Related Res 424:183-190, 2004). Common clinical features include a short neck, low posterior hairline, restricted range of head movement, and scoliosis. Less common clinical features include rib abnormalities, kidney and heart malformations, deafness, ocular anomalies and respiratory problems. In one series of patients, the average age at onset of symptoms was 12 years (Samartzis et al. Spine 31(21):E798-E804, 2006).

Genetics

Klippel-Feil syndrome 2 (OMIM#214300) is inherited in an autosomal recessive manner and is caused by mutations in the MEOX1 gene. MEOX1, coded by MEOX1, is a homeodomain-containing protein that is highly expressed in mesodermally derived embryonic tissues and plays a key role in all somite development (Skuntz , S. et al. Dev Biol 332(2):383-395, 2009). To date, only two causative mutations (c.644C>T, p.Arg222* and c.94delG, p.Ala32Profs*165) have been reported in two unrelated Klippel-Feil syndrome families (Mohamed, J. Y. Am J Hum Genet 92(1):157-161, 2013).

Clinical Sensitivity - Sequencing with CNV PGxome

Analytical sensitivity may be high because the two reported mutations are expected to be detected by sequencing. Clinical sensitivity is currently unknown due to limitations in the medical literature regarding the disease causing mutations of the MEOX1 gene (Mohamed, J. Y. et al. Am J Hum Genet 92(1):157-161, 2013).

Testing Strategy

This test provides full coverage of all coding exons of the MEOX1 gene plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define full coverage as >20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

Candidates for this test are patients with symptoms consistent with Klippel-Feil syndrome, and the family members of patients who have known mutations. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in MEOX1.

Gene

Official Gene Symbol OMIM ID
MEOX1 600147
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Klippel-Feil syndrome 2, autosomal recessive AR 214300

Related Test

Name
Klippel-Feil Syndrome via the GDF6 Gene

Citations

  • Mohamed, J. Y. et al. (2013).  “Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly."  Am J Hum Genet 92(1):157-161. PubMed ID: 23290072
  • Samartzis, D.D. et.al. (2006). "Classification of congenitally fused cervical patterns in Klippel-Feil patients: epidemiology and role in the development of cervical spine-related symptoms." Spine 31(21): E798-804. PubMed ID: 17023841
  • Skuntz, S. et al. (2009) "Lack of the mesodermal homeodomain protein MEOX1 disrupts sclerotome polarity and leads to a remodeling of the cranio-cervical joints of the axial skeleton." Dev Biol 332(2):383-395. PubMed ID: 19520072
  • Tracy, M. R. et.al. (2004). "Klippel-Feil syndrome: clinical features and current understanding of etiology." Clin Orthop Relat Res (424): 183-90. PubMed ID: 15241163

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
Total Price: $
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